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fredag 25 oktober 2019

KLHL31 (6p12.1), KBTBD1, BKLHD6, BTB and Kelch Domain Containing protein 6 , Kelch Like 31

Aliases for KLHL31 Gene
  • Kelch Like Family Member 31 2 3 5
  • Kelch Repeat And BTB Domain-Containing Protein 1 3 4
  • Kelch Repeat And BTB (POZ) Domain Containing 1 2 3
  • BTB And Kelch Domain-Containing Protein 6 3 4
  • Kelch-Like Protein KLHL 3 4
  • Kelch-Like Protein 31 3 4
  • KBTBD1 3 4
  • BKLHD6 3 4
  • KLHL 3 4
  • Kelch-Like 31 (Drosophila) 2
  • BA345L23.2 3
  •  https://www.ncbi.nlm.nih.gov/protein/NP_001003760.2
    ORIGIN      
            1 mapkkkivkk nkgdinemti ivedsplnkl nalngllegg nglscissel tdasygpnll
           61 eglskmrqen flcdlvigtk tksfdvhksv mascseyfyn ilkkdpsiqr vdlndisplg
          121 latviayayt gkltlslyti gsiisaavyl qihtlvkmcs dfliremsve ncmyvvniae
          181 tyslknakaa aqkfirdnfl efaesdqfmk ltfeqinell idddlqlpse ivafqiamkw
          241 lefdqkrvky aadllsnirf gtisaqdlvn yvqsvprmmq dadchrllvd amnyhllpyh
          301 qntlqsrrtr irggcrvlvt vggrpgltek slsrdilyrd pengwsklte mpaksfnqcv
          361 avmdgflyva ggedqndarn qakhavsnfc rydprfntwi hlasmnqkrt hfslsvfngl
          421 vyaaggrnae gslaslecyv pstnqwqpkt plevarccha savadgrvlv tggyianays
          481 rsvcaydpas dswqelpnls tprgwhcavt lsdrvyvmgg sqlgprgerv dvltvecysp
          541 atgqwsyaap lqvgvstagv salhgraylv ggwnegekky kkciqcfspe lnewteddel
          601 peatvgvscc tlsmpnnvtr esrassvssv pvsi
    //
    LxxLL motiivi 

External Ids for KLHL31 Gene

OMIM https://www.omim.org/entry/610749
* 610749

KELCH-LIKE 31; KLHL31
Alternative titles; symbols
KLHL
HGNC Approved Gene Symbol: KLHL31
Cytogenetic location: 6p12.1     Genomic coordinates (GRCh38): 6:53,647,915-53,665,853 (from NCBI)

TEXT

Cloning and Expression

Wu and Gong (2004) identified a novel kelch-like gene in zebrafish by a whole-mount in situ hybridization screen for genes involved in embryogenesis. By database analysis with the sequence of this gene, designated klhl, they identified orthologs in human (KLHL31), mouse, rat, and pufferfish. The deduced human KLHL31 protein contains 634 amino acids, with a kelch repeat domain in the C terminus and a BTB/POX domain in the N terminus. The human and zebrafish proteins share approximately 72% sequence identity. Northern blot analysis of human tissues detected a single 6-kb KLHL31 transcript with strong expression in skeletal muscle and weak expression in heart, consistent with the expression pattern in zebrafish

Mapping

By sequence analysis, Wu and Gong (2004) mapped the zebrafish klhl gene to linkage group (LG) 13, and the human KLHL31 gene to a region of syntenic homology on chromosome 6p12. They also mapped the mouse and rat klhl orthologs to regions of syntenic homology on chromosome 9 and chromosome 8, respectively.

REFERENCES


  1. Wu, Y. L., Gong, Z. A novel zebrafish kelchlike gene klhl and its human ortholog KLHL display conserved expression patterns in skeletal and cardiac muscles. Gene 338: 75-83, 2004. [PubMed: 15302408, related citations] [Full Text]




Creation Date:

Carol A. Bocchini : 2/7/2007
carol : 02/07/2007

 

 

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